Property Summary

NCBI Gene PubMed Count 65
Grant Count 130
R01 Count 68
Funding $44,894,452
PubMed Score 177.66
PubTator Score 162.09

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
malignant mesothelioma 1.400 0.000
psoriasis -1.300 0.000
ependymoma -1.100 0.000
glioblastoma -1.300 0.000
primitive neuroectodermal tumor -1.200 0.001
primary pancreatic ductal adenocarcinoma -1.137 0.011
non-small cell lung cancer -2.582 0.000
lung cancer -2.100 0.000
lung adenocarcinoma -2.500 0.000
pediatric high grade glioma -1.100 0.000
nasopharyngeal carcinoma 1.200 0.023
lung carcinoma -1.300 0.000

Synonym

Accession Q99758 B2RU09 Q54A95 Q6P5P9 Q92473
Symbols ABC3
ABC-C
SMDP3
LBM180
EST111653

Gene

Gene RIF (58)

PMID Text
26903515 These results provide evidence of ABCA3 as an MLF efflux transporter in human macrophages and support its role in the direct antileishmanial effect of this alkylphosphocholine drug.
26517903 Studies indicate that ATP-binding cassette (ABC), subfamily A, member 3 (ABCA3) is developmentally regulated.
26295388 Data discussed the structural features of ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model to locate relevant mutations and make genotype/phenotype correlations of affected patients. [review]
25817392 Accumulation of free cholesterol as a result of a loss of ABCA3 export function represents a novel pathomechanism in ABCA3-induced Diffuse parenchymal lung disease.
25406294 We identified a cataract-microcornea syndrome (cmcc) associated gene, ABCA3, which had heterozygous missense mutations in two autosomal dominant CCMC families. Another four heterozygous mutations, 2 missense and 2 splice site mutations were identified.
25073622 In the title.
25056761 SLCO1B3 699GG and 344TT genotypes are associated with non-response to IM, while ABCA3 4548-91 CC/CA genotypes are related to poor CMR in CML patients treated with standard-dose imatinib.
24871971 Genotype-phenotype correlations exist for homozygous or compound heterozygous mutations in ABCA3 causing neonatal respiratory failure or childhood interstitial lung disease.
24730976 A large kindred is identified with a novel ABCA3 mutation causing pulmonary fibrosis.
24657120 ABCA3 protein, human genetic variants does not increase the risk of neonatal respiratory distress syndrome.
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AA Sequence

MAVLRQLALLLWKNYTLQKRKVLVTVLELFLPLLFSGILIWLRLKIQSENVPNATIYPGQSIQELPLFFT      1 - 70
FPPPGDTWELAYIPSHSDAAKTVTETVRRALVINMRVRGFPSEKDFEDYIRYDNCSSSVLAAVVFEHPFN     71 - 140
HSKEPLPLAVKYHLRFSYTRRNYMWTQTGSFFLKETEGWHTTSLFPLFPNPGPREPTSPDGGEPGYIREG    141 - 210
FLAVQHAVDRAIMEYHADAATRQLFQRLTVTIKRFPYPPFIADPFLVAIQYQLPLLLLLSFTYTALTIAR    211 - 280
AVVQEKERRLKEYMRMMGLSSWLHWSAWFLLFFLFLLIAASFMTLLFCVKVKPNVAVLSRSDPSLVLAFL    281 - 350
LCFAISTISFSFMVSTFFSKANMAAAFGGFLYFFTYIPYFFVAPRYNWMTLSQKLCSCLLSNVAMAMGAQ    351 - 420
LIGKFEAKGMGIQWRDLLSPVNVDDDFCFGQVLGMLLLDSVLYGLVTWYMEAVFPGQFGVPQPWYFFIMP    421 - 490
SYWCGKPRAVAGKEEEDSDPEKALRNEYFEAEPEDLVAGIKIKHLSKVFRVGNKDRAAVRDLNLNLYEGQ    491 - 560
ITVLLGHNGAGKTTTLSMLTGLFPPTSGRAYISGYEISQDMVQIRKSLGLCPQHDILFDNLTVAEHLYFY    561 - 630
AQLKGLSRQKCPEEVKQMLHIIGLEDKWNSRSRFLSGGMRRKLSIGIALIAGSKVLILDEPTSGMDAISR    631 - 700
RAIWDLLQRQKSDRTIVLTTHFMDEADLLGDRIAIMAKGELQCCGSSLFLKQKYGAGYHMTLVKEPHCNP    701 - 770
EDISQLVHHHVPNATLESSAGAELSFILPRESTHRFEGLFAKLEKKQKELGIASFGASITTMEEVFLRVG    771 - 840
KLVDSSMDIQAIQLPALQYQHERRASDWAVDSNLCGAMDPSDGIGALIEEERTAVKLNTGLALHCQQFWA    841 - 910
MFLKKAAYSWREWKMVAAQVLVPLTCVTLALLAINYSSELFDDPMLRLTLGEYGRTVVPFSVPGTSQLGQ    911 - 980
QLSEHLKDALQAEGQEPREVLGDLEEFLIFRASVEGGGFNERCLVAASFRDVGERTVVNALFNNQAYHSP    981 - 1050
ATALAVVDNLLFKLLCGPHASIVVSNFPQPRSALQAAKDQFNEGRKGFDIALNLLFAMAFLASTFSILAV   1051 - 1120
SERAVQAKHVQFVSGVHVASFWLSALLWDLISFLIPSLLLLVVFKAFDVRAFTRDGHMADTLLLLLLYGW   1121 - 1190
AIIPLMYLMNFFFLGAATAYTRLTIFNILSGIATFLMVTIMRIPAVKLEELSKTLDHVFLVLPNHCLGMA   1191 - 1260
VSSFYENYETRRYCTSSEVAAHYCKKYNIQYQENFYAWSAPGVGRFVASMAASGCAYLILLFLIETNLLQ   1261 - 1330
RLRGILCALRRRRTLTELYTRMPVLPEDQDVADERTRILAPSPDSLLHTPLIIKELSKVYEQRVPLLAVD   1331 - 1400
RLSLAVQKGECFGLLGFNGAGKTTTFKMLTGEESLTSGDAFVGGHRISSDVGKVRQRIGYCPQFDALLDH   1401 - 1470
MTGREMLVMYARLRGIPERHIGACVENTLRGLLLEPHANKLVRTYSGGNKRKLSTGIALIGEPAVIFLDE   1471 - 1540
PSTGMDPVARRLLWDTVARARESGKAIIITSHSMEECEALCTRLAIMVQGQFKCLGSPQHLKSKFGSGYS   1541 - 1610
LRAKVQSEGQQEALEEFKAFVDLTFPGSVLEDEHQGMVHYHLPGRDLSWAKVFGILEKAKEKYGVDDYSV   1611 - 1680
SQISLEQVFLSFAHLQPPTAEEGR                                                 1681 - 1704
//

Text Mined References (68)

PMID Year Title
26903515 2016 Functional Validation of ABCA3 as a Miltefosine Transporter in Human Macrophages: IMPACT ON INTRACELLULAR SURVIVAL OF LEISHMANIA (VIANNIA) PANAMENSIS.
26517903 2015 ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.
26295388 2015 Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
25817392 2015 ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.
25406294 2014 Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome.
25073622 2014 Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks).
25056761 2015 Relationship between SLCO1B3 and ABCA3 polymorphisms and imatinib response in chronic myeloid leukemia patients.
24871971 2014 Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
24730976 2014 A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
24657120 2014 Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.
More...